Review Article

From the Mediterranean to the Sea of Japan: The Transcontinental Odyssey of Autoinflammatory Diseases

Table 2

The clinical features of mevalonate kinase deficiency.

GeneMVK (12q24)
InheritanceAutosomal recessive
Protein encodedMevalonate kinase
OMIM260920 (610377 for mevalonic aciduria)
OnsetFirst infancy
FeverOver 40°C
Preceded by chills and malaise
Lasting 4–7 days
Gastrointestinal signs Severe abdominal pain, vomiting, and diarrhoea
Rash featuresMacular, papular, morbilliform, nodular, and urticarial, but also resembling Henoch-Schönlein purpura, erythema nodosum, or erythema elevatum diutinum
Mucosal signs Oral and/or vaginal aphthous ulcers in 50% of patients
Articular signs Symmetrical arthralgias, nonerosive arthritides in large joints
Lymph node involvementCervical or diffuse
Bilateral
Painful
Visceral involvementHepatosplenomegaly
Neurologic involvementNonspecific headache
Serum marker in the interfebrile phaseIgD above 100 IU/mL (in at least 80% of patients)
Urinary marker during febrile attacksIncreased excretion of mevalonic acid
TreatmentAnti-inflammatory drugs, corticosteroids, and on-demand interleukin-1 antagonists